Varaico: Literature-Extracted Genetic Variants

LNX1

70 papers

RefSeq Summary

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and su...

Pfam Domains

zf-C3HC4aa 41–77UCSCZinc finger, C3HC4 type (RING finger)

PDZaa 274–356UCSCPDZ domain

PDZaa 381–461UCSCPDZ domain

PDZaa 507–590UCSCPDZ domain

PDZaa 638–721UCSCPDZ domain

Gene Aliases

HGNC Name

ligand of numb-protein X 1

HGNC Alias Symbol

PDZRN2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

4 papers

NM_001126328.3

p.A227V

c.680C>T

3 papers

NM_001126328.3

p.A131V

c.392C>T

3 papers

NM_001126328.3

p.P542R

c.1625C>G

2 papers

NM_001126328.3

p.R345W

c.1033C>T

2 papers

NM_001126328.3

p.E390K

c.1168G>A

2 papers

NM_001126328.3

p.R428H

c.1283G>A

1 paper

NM_001126328.3

p.P12S

c.34C>T

1 paper

NM_001126328.3

p.C14Y

c.41G>A

1 paper

NM_001126328.3

p.F28L

c.82T>C

1 paper

NM_001126328.3

p.F28L

c.84C>G

1 paper

NM_001126328.3

p.F28L

c.84C>A

1 paper

NM_001126328.3

p.D36A

c.107A>C